Canonical Allele Identifier: CA645526279

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 3075308
• ClinVar RCV Id: RCV004015834
• COSMIC: COSM5052961

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077003dup , CM000663.2:g.201077003dup	GRCh38
NC_000001.10:g.201046131dup , CM000663.1:g.201046131dup	GRCh37
NC_000001.9:g.199312754dup	NCBI36
NG_009816.1:g.40569dup
NG_009816.2:g.40569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1749dup MANE Select	ENSP00000355192.3:p.Arg584GlufsTer3
ENST00000679417.1:c.*912dup	ENSP00000506706.1:n.*912dup
ENST00000680059.1:c.1749dup	ENSP00000504944.1:p.Arg584GlufsTer3
ENST00000681078.1:c.1749dup	ENSP00000506645.1:p.Arg584GlufsTer3
ENST00000681190.1:c.1749dup	ENSP00000506428.1:p.Arg584GlufsTer3
ENST00000681874.1:c.1749dup	ENSP00000505162.1:p.Arg584GlufsTer3
ENST00000362061.3:c.1749dup	ENSP00000355192.3:p.Arg584GlufsTer3
ENST00000367338.7:c.1749dup	ENSP00000356307.3:p.Arg584GlufsTer3
NM_000069.2:c.1749dup	NP_000060.2:p.Arg584GlufsTer3
XM_005245478.2:c.1749dup	XP_005245535.1:p.Arg584GlufsTer3
XM_005245478.3:c.1749dup	XP_005245535.1:p.Arg584GlufsTer3
NM_000069.3:c.1749dup MANE Select	NP_000060.2:p.Arg584GlufsTer3